Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs8026752
rs8026752
FBN1
1 1.000 0.040 15 48531573 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs8041668
rs8041668
FBN1
1 1.000 0.040 15 48543158 intron variant T/C snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs589668
rs589668
FBN1
1 1.000 0.040 15 48543738 intron variant C/T snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs595244
rs595244
FBN1
3 0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs2448485
rs2448485
FBN1
1 1.000 0.040 15 48567536 intron variant A/G snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs682938
rs682938
FBN1
1 1.000 0.040 15 48572170 intron variant A/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs1354738
rs1354738
FBN1
1 1.000 0.040 15 48591499 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs920184
rs920184
FBN1
1 1.000 0.040 15 48600742 intron variant C/T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs1036476
rs1036476
FBN1
1 1.000 0.040 15 48622578 intron variant T/C snv 7.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs1036477
rs1036477
FBN1
5 0.882 0.040 15 48622729 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2118181
rs2118181
FBN1
6 0.851 0.040 15 48623687 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs2437946
rs2437946
FBN1
1 1.000 0.040 15 48633805 intron variant G/A snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs1678983
rs1678983
FBN1
1 1.000 0.040 15 48638448 intron variant T/C snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2247876
rs2247876
FBN1
2 1.000 0.040 15 48639254 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs6493333
rs6493333
FBN1 ; LOC105370809
2 0.925 0.040 15 48646849 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs2289136
rs2289136
LOC105370809
1 1.000 0.040 15 48652075 downstream gene variant G/A snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs4775770
rs4775770
LOC105370809
1 1.000 0.040 15 48652366 downstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2099562
rs2099562 		1 1.000 0.040 15 48659080 downstream gene variant A/G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs7173026
rs7173026 		1 1.000 0.040 15 48659353 downstream gene variant C/T snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs7173410
rs7173410 		1 1.000 0.040 15 48659577 downstream gene variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs931782
rs931782
CEP152
1 1.000 0.040 15 48662569 non coding transcript exon variant A/T snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs8038489
rs8038489
CEP152
1 1.000 0.040 15 48664070 upstream gene variant T/C snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs2043682
rs2043682
CEP152
1 1.000 0.040 15 48665546 upstream gene variant C/A snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs4775771
rs4775771
CEP152
1 1.000 0.040 15 48668393 regulatory region variant G/T snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs12442299
rs12442299
CEP152
1 1.000 0.040 15 48672170 regulatory region variant G/A snv 0.66 0.700 1.000 1 2011 2011